ClinVar Miner

List of variants reported as pathogenic for 12p12.1 microdeletion syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NC_000012.11:g.23979791_24033225del
NC_000012.12:g.23484745_23564581del
NC_000012.12:g.23488792_23626279del
NC_000012.12:g.23771866_23888764del
NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter) rs869025321

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